Article
[A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene].
Rinsho shinkeigaku = Clinical neurology - 1 Nov 1994
Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K
Abstract excerpt
A 15-year-old girl (case 1) was admitted to our hospital because of progressive muscle weakness of the lower limbs and numbness of the upper limbs. She noted these symptoms beginning at 13 years of age. Neurological examination revealed that deep tendon reflexes were absent and hypesthesia of tou...
Topics
- Adolescent
- Adult
- Charcot-Marie-Tooth Disease
- Family Health
- Female
- Humans
- Mutation
- Myelin P0 Protein
- Myelin Proteins
- Neural Conduction
- Peripheral Nerves